Variant report

Variant	rs2245824
Chromosome Location	chr14:21439124-21439125
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21164524..21167490-chr14:21438103..21441098,2	MCF-7	breast:
2	chr14:21432822..21434534-chr14:21436325..21439304,2	K562	blood:
3	chr14:21438371..21441079-chr14:21465707..21468075,2	MCF-7	breast:
4	chr14:21325535..21326543-chr14:21438744..21440024,15	MCF-7	breast:
5	chr14:21438410..21440043-chr14:21441978..21444200,2	MCF-7	breast:
6	chr14:21437415..21439351-chr14:21449337..21451535,2	K562	blood:
7	chr14:21438132..21440725-chr14:21450674..21453864,3	MCF-7	breast:
8	chr14:20937597..20940433-chr14:21438426..21440777,2	MCF-7	breast:
9	chr14:21325537..21326206-chr14:21438780..21439731,4	MCF-7	breast:
10	chr14:21438254..21441187-chr14:21454392..21458605,4	MCF-7	breast:
11	chr14:21429229..21430249-chr14:21438962..21439710,3	MCF-7	breast:
12	chr14:21438667..21439824-chr14:21560356..21561352,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165794	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000258471	Chromatin interaction
ENSG00000258599	Chromatin interaction
ENSG00000165792	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17096637	1.00[EUR][1000 genomes]
rs17096638	1.00[EUR][1000 genomes]
rs2234638	1.00[EUR][1000 genomes]
rs2741728	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2741733	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2771328	1.00[EUR][1000 genomes]
rs2771330	1.00[EUR][1000 genomes]
rs2771331	1.00[EUR][1000 genomes]
rs2771333	1.00[EUR][1000 genomes]
rs2783780	1.00[EUR][1000 genomes]
rs2783783	1.00[EUR][1000 genomes]
rs2783790	1.00[EUR][1000 genomes]
rs4982366	1.00[EUR][1000 genomes]
rs73571930	1.00[EUR][1000 genomes]
rs73582001	1.00[EUR][1000 genomes]
rs73583894	1.00[EUR][1000 genomes]
rs74034604	1.00[EUR][1000 genomes]
rs74034609	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758349	chr14:21216108-21471614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759972	chr14:21216108-21471614	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv427936	chr14:21216108-21531783	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
4	nsv428293	chr14:21216108-21531783	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
5	nsv832740	chr14:21332060-21545052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	45 gene(s)	inside rSNPs	diseases
6	nsv1044554	chr14:21334087-21456092	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv470622	chr14:21338824-21469151	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv563847	chr14:21338824-21469151	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
11	nsv901475	chr14:21426282-21465489	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv1054126	chr14:21432455-21456092	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21438600-21439200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:21438800-21439200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:21438800-21439200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21438800-21439200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr14:21438800-21439200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr14:21438800-21439200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:21438800-21439200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:21438800-21439200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr14:21438800-21439200	Enhancers	Primary B cells from peripheral blood	blood
10	chr14:21438800-21439200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr14:21438800-21439200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr14:21438800-21439200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr14:21438800-21439200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:21438800-21439200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr14:21438800-21439200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:21438800-21439200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:21438800-21439200	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr14:21438800-21439200	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr14:21438800-21439200	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr14:21438800-21439200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr14:21438800-21439200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr14:21438800-21439200	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr14:21438800-21439200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr14:21438800-21439200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr14:21438800-21439200	Flanking Active TSS	Fetal Heart	heart
26	chr14:21438800-21439200	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr14:21438800-21439200	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr14:21438800-21439200	Enhancers	Stomach Mucosa	stomach
29	chr14:21438800-21439200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:21438800-21439200	Enhancers	Spleen	Spleen
31	chr14:21438800-21439200	Flanking Active TSS	A549	lung
32	chr14:21438800-21439200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr14:21438800-21439200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr14:21438800-21439400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:21438800-21439400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr14:21438800-21439400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:21438800-21439400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:21438800-21439400	Flanking Active TSS	GM12878-XiMat	blood
39	chr14:21438800-21439400	Active TSS	NHEK	skin
40	chr14:21438800-21439800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:21438800-21439800	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr14:21438800-21439800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr14:21438800-21439800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:21438800-21439800	Active TSS	Fetal Brain Female	brain
45	chr14:21438800-21439800	Active TSS	Osteobl	bone
46	chr14:21438800-21440000	Active TSS	H1 Cell Line	embryonic stem cell
47	chr14:21438800-21440000	Active TSS	H9 Cell Line	embryonic stem cell
48	chr14:21438800-21440000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
49	chr14:21438800-21440000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr14:21438800-21440000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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